"PreventionGenetics, part of Exact Sciences"[submitter] AND "CPZ"[gene - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3037364	NM_001014447.3(CPZ):c.-10C>T	CPZ	Single nucleotide variant (5 prime UTR variant)	CPZ-related disorder	GLikely benign
Select item 3056417	NM_001014447.3(CPZ):c.12G>C (p.Pro4=)	CPZ	Single nucleotide variant (synonymous variant +1 more)	CPZ-related disorder	GBenign
Select item 3059669	NM_001014447.3(CPZ):c.17C>T (p.Pro6Leu)	CPZ (P6L)	Single nucleotide variant (missense variant +1 more)	CPZ-related disorder	GBenign
Select item 3056352	NM_001014447.3(CPZ):c.56G>C (p.Arg19Pro)	CPZ (R19P)	Single nucleotide variant (missense variant +1 more)	CPZ-related disorder	GBenign
Select item 3044860	NM_001014447.3(CPZ):c.231C>T (p.Ser77=)	CPZ	Single nucleotide variant (synonymous variant +1 more)	CPZ-related disorder	GBenign
Select item 3045123	NM_001014447.3(CPZ):c.366C>T (p.Cys122=)	CPZ	Single nucleotide variant (synonymous variant +1 more)	CPZ-related disorder	GLikely benign
Select item 3043372	NM_001014447.3(CPZ):c.377G>A (p.Arg126Gln)	CPZ (R115Q +1 more)	Single nucleotide variant (missense variant +1 more)	CPZ-related disorder	GBenign
Select item 3056986	NM_001014447.3(CPZ):c.389A>T (p.Gln130Leu)	CPZ (Q119L +1 more)	Single nucleotide variant (missense variant +1 more)	CPZ-related disorder	GBenign
Select item 3034032	NM_001014447.3(CPZ):c.462C>T (p.Asp154=)	CPZ	Single nucleotide variant (synonymous variant)	CPZ-related disorder	GBenign
Select item 3052227	NM_001014447.3(CPZ):c.497-5C>G	CPZ	Single nucleotide variant (intron variant)	CPZ-related disorder	GLikely benign
Select item 3059828	NM_001014447.3(CPZ):c.612C>T (p.Cys204=)	CPZ	Single nucleotide variant (synonymous variant)	CPZ-related disorder	GBenign
Select item 3051487	NM_001014447.3(CPZ):c.613G>A (p.Ala205Thr)	CPZ (A194T +2 more)	Single nucleotide variant (missense variant)	CPZ-related disorder	GUncertain significance
Select item 3039414	NM_001014447.3(CPZ):c.639C>T (p.Ile213=)	CPZ	Single nucleotide variant (synonymous variant)	CPZ-related disorder	GBenign
Select item 3055879	NM_001014447.3(CPZ):c.654C>T (p.Asp218=)	CPZ	Single nucleotide variant (synonymous variant)	CPZ-related disorder	GBenign
Select item 3038015	NM_001014447.3(CPZ):c.654C>A (p.Asp218Glu)	CPZ (D207E +2 more)	Single nucleotide variant (missense variant)	CPZ-related disorder	GBenign
Select item 775948	NM_001014447.3(CPZ):c.750C>T (p.Asn250=)	CPZ	Single nucleotide variant (synonymous variant)	CPZ-related disorder +1 more	GBenign
Select item 709574	NM_001014447.3(CPZ):c.788A>G (p.Gln263Arg)	CPZ (Q263R +2 more)	Single nucleotide variant (missense variant)	CPZ-related disorder +1 more	GBenign
Select item 3049378	NM_001014447.3(CPZ):c.850C>T (p.Arg284Cys)	CPZ (R147C +2 more)	Single nucleotide variant (missense variant)	CPZ-related disorder	GLikely benign
Select item 3033724	NM_001014447.3(CPZ):c.903C>G (p.Ala301=)	CPZ	Single nucleotide variant (synonymous variant)	CPZ-related disorder	GBenign
Select item 3030295	NM_001014447.3(CPZ):c.1062G>A (p.Trp354Ter)	CPZ (W217* +2 more)	Single nucleotide variant (nonsense)	CPZ-related disorder	GLikely benign
Select item 3039390	NM_001014447.3(CPZ):c.1198A>G (p.Lys400Glu)	CPZ (K263E +2 more)	Single nucleotide variant (missense variant)	CPZ-related disorder	GLikely benign
Select item 3039096	NM_001014447.3(CPZ):c.1236G>T (p.Lys412Asn)	CPZ (K275N +2 more)	Single nucleotide variant (missense variant)	CPZ-related disorder	GBenign
Select item 3058936	NM_001014447.3(CPZ):c.1260C>T (p.Asp420=)	CPZ	Single nucleotide variant (synonymous variant)	CPZ-related disorder	GBenign
Select item 3025085	NM_001014447.3(CPZ):c.1287G>A (p.Ser429=)	CPZ	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3059944	NM_001014447.3(CPZ):c.1341G>A (p.Ala447=)	CPZ	Single nucleotide variant (synonymous variant)	CPZ-related disorder	GBenign
Select item 3055597	NM_001014447.3(CPZ):c.1363+6G>T	CPZ	Single nucleotide variant (intron variant)	CPZ-related disorder	GBenign
Select item 3033884	NM_001014447.3(CPZ):c.1364-40_1364-6del	CPZ	Deletion (intron variant)	CPZ-related disorder	GBenign
Select item 3041702	NM_001014447.3(CPZ):c.1438C>G (p.Pro480Ala)	CPZ (P343A +2 more)	Single nucleotide variant (missense variant)	CPZ-related disorder	GBenign
Select item 3055306	NM_001014447.3(CPZ):c.1502C>T (p.Thr501Met)	CPZ (T364M +2 more)	Single nucleotide variant (missense variant)	CPZ-related disorder	GBenign
Select item 3055739	NM_001014447.3(CPZ):c.1504-3C>T	CPZ	Single nucleotide variant (intron variant)	CPZ-related disorder	GBenign
Select item 3039015	NM_001014447.3(CPZ):c.1511G>A (p.Arg504Gln)	CPZ (R367Q +2 more)	Single nucleotide variant (missense variant)	CPZ-related disorder	GBenign
Select item 783318	NM_001014447.3(CPZ):c.1566G>T (p.Arg522=)	CPZ	Single nucleotide variant (synonymous variant)	CPZ-related disorder +1 more	GBenign
Select item 783319	NM_001014447.3(CPZ):c.1604-8G>T	CPZ	Single nucleotide variant (intron variant)	CPZ-related disorder +1 more	GBenign
Select item 3034277	NM_001014447.3(CPZ):c.1674C>T (p.Tyr558=)	CPZ	Single nucleotide variant (synonymous variant)	CPZ-related disorder	GLikely benign
Select item 3042600	NM_001014447.3(CPZ):c.1704C>T (p.Pro568=)	CPZ	Single nucleotide variant (synonymous variant)	CPZ-related disorder	GBenign
Select item 3038742	NM_001014447.3(CPZ):c.1709G>A (p.Arg570Gln)	CPZ (R433Q +2 more)	Single nucleotide variant (missense variant)	CPZ-related disorder	GLikely benign
Select item 3031403	NM_001014447.3(CPZ):c.1723G>C (p.Gly575Arg)	CPZ (G438R +2 more)	Single nucleotide variant (missense variant)	CPZ-related disorder	GUncertain significance
Select item 3038252	NM_001014447.3(CPZ):c.1782G>A (p.Gly594=)	CPZ	Single nucleotide variant (synonymous variant)	CPZ-related disorder	GBenign
Select item 3038299	NM_001014447.3(CPZ):c.1787G>A (p.Arg596Gln)	CPZ (R459Q +2 more)	Single nucleotide variant (missense variant)	CPZ-related disorder	GBenign
Select item 775949	NM_001014447.3(CPZ):c.1854G>A (p.Pro618=)	CPZ	Single nucleotide variant (synonymous variant)	CPZ-related disorder +1 more	GBenign
Select item 3037844	NM_001014447.3(CPZ):c.1884C>T (p.Asp628=)	CPZ	Single nucleotide variant (synonymous variant)	CPZ-related disorder	GBenign
Select item 747260	NM_001014447.3(CPZ):c.1941C>G (p.Arg647=)	CPZ	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3055246	NM_001014447.3(CPZ):c.*4C>T	CPZ	Single nucleotide variant (3 prime UTR variant)	CPZ-related disorder	GBenign
Select item 3034544	NM_001014447.3(CPZ):c.*7C>G	CPZ	Single nucleotide variant (3 prime UTR variant)	CPZ-related disorder	GLikely benign

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Items: 44